Missense mutation in mouse GALC mimics human gene defect and offers new insights into Krabbe disease
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New therapeutic approaches for Krabbe disease: The potential of pharmacological chaperonesNeuroimmune mechanisms in Krabbe's diseaseRegional differences in fiber tractography predict neurodevelopmental outcomes in neonates with infantile Krabbe disease.DNA promoter hypermethylation contributes to down-regulation of galactocerebrosidase gene in lung and head and neck cancersA microglial hypothesis of globoid cell leukodystrophy pathology.Metabolic profiling reveals biochemical pathways and potential biomarkers associated with the pathogenesis of Krabbe disease.Patient fibroblasts-derived induced neurons demonstrate autonomous neuronal defects in adult-onset Krabbe disease.Endothelial cell dysfunction in globoid cell leukodystrophy.Krabbe disease: One Hundred years from the bedside to the bench to the bedside.Biochemical, cell biological, pathological, and therapeutic aspects of Krabbe's disease.Treatment for Krabbe's disease: Finding the combination.Perspective on innovative therapies for globoid cell leukodystrophy.Lipid Involvement in Neurodegenerative Diseases of the Motor System: Insights from Lysosomal Storage Diseases.Globoid cell leukodystrophy (Krabbe’s disease) in a Japanese domestic cat.
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P2860
Missense mutation in mouse GALC mimics human gene defect and offers new insights into Krabbe disease
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on 24 April 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Missense mutation in mouse GAL ...... w insights into Krabbe disease
@en
Missense mutation in mouse GAL ...... insights into Krabbe disease.
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type
label
Missense mutation in mouse GAL ...... w insights into Krabbe disease
@en
Missense mutation in mouse GAL ...... insights into Krabbe disease.
@nl
prefLabel
Missense mutation in mouse GAL ...... w insights into Krabbe disease
@en
Missense mutation in mouse GAL ...... insights into Krabbe disease.
@nl
P2093
P2860
P356
P1476
Missense mutation in mouse GAL ...... w insights into Krabbe disease
@en
P2093
Dan L Marks
David H Rowitch
Ernesto R Bongarzone
Gregory B Potter
Magdalena A Petryniak
Marta Santos
Muriel T Davisson
P2860
P304
P356
10.1093/HMG/DDT190
P577
2013-04-24T00:00:00Z